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Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension

Abstract:
It is well established that gene interactions influence common human diseases, but to date linkage studies have been constrained to searching for single genes across the genome. We applied a novel approach to uncover significant gene-gene interactions in a systematic two-dimensional (2D) genome-scan of essential hypertension. The study cohort comprised 2076 affected sib-pairs and 66 affected half-sib-pairs of the British Genetics of HyperTension study. Extensive simulations were used to establish significance thresholds in the context of 2D genome-scans. Our analyses found significant and suggestive evidence for loci on chromosomes 5, 9,11, 15, 16 and 19, which influence hypertension when gene-gene interactions are taken into account (5q13.1 and 11q22.1, two-locus lod score = 5.72; 5q13.1 and 19q12, two-locus lod score = 5.35; 9q22.3 and 15q12, two-locus lod score = 4.80; 16p12.3 and 16q23.1, two-locus lod score= 4.50). For each significant and suggestive pairwise interaction, the two-locus genetic model that best fitted the data was determined. Regions that were not detected using single-locus linkage analysis were identified in the 2D scan as contributing significant epistatic effects. This approach has discovered novel loci for hypertension and offers a unique potential to use existing data to uncover novel regions involved in complex human diseases.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1093/hmg/ddl058

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
Barts and The London School of Medicine and Dentistry, London
Role:
Author
More by this author
Institution:
Barts and The London School of Medicine and Dentistry, London
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
Barts and The London School of Medicine and Dentistry, London
Role:
Author


Publisher:
Oxford University Press
Journal:
Human Molecular Genetics More from this journal
Volume:
15
Issue:
8
Pages:
1365-1374
Publication date:
2006-04-01
Edition:
Publisher's version
DOI:
EISSN:
1460-2083
ISSN:
0964-6906


Language:
English
Keywords:
Subjects:
UUID:
uuid:3c2b3fd4-4afb-4579-acc8-d9cbda9dc2b4
Local pid:
ora:1650
Deposit date:
2008-03-14

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